Canonical Allele Identifier: CA381644877
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917807A>C , CM000673.2:g.68917807A>C GRCh38
NC_000011.9:g.68685275A>C , CM000673.1:g.68685275A>C GRCh37
NC_000011.8:g.68441851A>C NCBI36
NG_007976.1:g.18957A>C , LRG_250:g.18957A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.984A>C MANE Select ENSP00000255078.4:p.Lys328Asn
ENST00000674745.1:c.72A>C ENSP00000502738.1:p.Lys24Asn
ENST00000674775.1:n.72A>C
ENST00000674955.1:c.984A>C ENSP00000502463.1:p.Lys328Asn
ENST00000675118.1:c.472A>C
ENST00000675119.1:c.411A>C ENSP00000501861.1:n.411A>C
ENST00000675305.1:c.304A>C ENSP00000502365.1:n.304A>C
ENST00000675464.1:c.267A>C ENSP00000502650.1:p.Lys89Asn
ENST00000675493.1:n.72A>C
ENST00000675615.1:c.984A>C ENSP00000502413.1:p.Lys328Asn
ENST00000675648.1:n.359A>C
ENST00000675683.1:c.371A>C
ENST00000675684.1:c.72A>C ENSP00000502192.1:p.Lys24Asn
ENST00000676173.1:n.1028A>C
ENST00000676228.1:c.*307A>C ENSP00000502375.1:n.*307A>C
ENST00000255078.7:c.984A>C ENSP00000255078.3:p.Lys328Asn
NM_002180.2:c.984A>C , LRG_250t1:c.984A>C NP_002171.2:p.Lys328Asn
XM_005273974.2:c.-28A>C XP_005274031.1:n.-28A>C
XM_005273976.1:c.984A>C XP_005274033.1:p.Lys328Asn
XR_247198.1:n.1086A>C
XR_949903.1:n.1086A>C
XM_005273976.2:c.984A>C XP_005274033.1:p.Lys328Asn
XM_017017669.2:c.-28A>C XP_016873158.1:n.-28A>C
XM_017017670.2:c.-28A>C XP_016873159.1:n.-28A>C
XM_017017671.2:c.984A>C XP_016873160.1:p.Lys328Asn
XR_949903.3:n.1082A>C
NM_002180.3:c.984A>C MANE Select NP_002171.2:p.Lys328Asn